NM_000527.4:c.1999T>C

HGVS Expressions

  • NG_009060.1:g.36001T>C
  • NM_000527.4:c.1999T>C
  • NP_000518.1:p.Cys667Arg
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Genomic Location

chr19:11120381

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

252163

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.43.1Syria2PathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997
143890.43.2Syria2PathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997 Belongs to the same consanguineous famil...
143890.43.3Syria2PathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997 Belongs to the same consanguineous famil...
143890.43.4Syria2PathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997 Belongs to the same consanguineous famil...
143890.43.5Syria2PathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997 Belongs to the same consanguineous famil...
143890.43.6Syria2PathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997 Belongs to the same consanguineous famil...
143890.43.G.1SyriaNAPathogenicHypercholesterolemia, Familial, 1Vergopoulos et al. 1997 Group with unknown number of members car...
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